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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP5A1 Gene

protein-coding   GIFtS: 62
GCID: GC18M043664

ATP synthase, H+ transporting, mitochondrial F1 complex,...

(Previous names: ATP synthase, H+ transporting, mitochondrial F1 complex,...)
(Previous symbols: ATP5AL2, ATPM)
 Explore 20 diseases affiliated with
ATP5A1 via our new
 Human Malady Compendium 
Biological research products
for ATP5A1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit 1,
Cardiac Muscle1 2
     HATP11
ATP5A1 2 3 5     MOM22
ATPM1 2 3 5     ATP Synthase Alpha Chain, Mitochondrial2
ATP5AL21 2 3     ATP Synthase Subunit Alpha, Mitochondrial2
ORM1 2 5     ATP Sythase (F1-ATPase) Alpha Subunit2
OMR1 2     Mitochondrial ATP Synthetase, Oligomycin-Resistant2
ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit, Isoform
1, Cardiac Muscle1 2
     EC 3.6.38
ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit, Isoform
2, Non-Cardiac Muscle-Like 21 2
     EC 3.6.3.148

External Ids:    HGNC: 8231   Entrez Gene: 4982   Ensembl: ENSG000001522347   OMIM: 1643605   UniProtKB: P257053   

Export aliases for ATP5A1 gene to outside databases

Previous GC identifers: GC18M043976 GC18M043450 GC18M043552 GC18M041916 GC18M041918 GC18M040521


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP5A1:
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an
electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is
composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component,
Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different
subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single
representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the
alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have
been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. (provided by RefSeq, Mar 2012)

UniProtKB/Swiss-Prot: ATPA_HUMAN, P25705
Function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the
presence of a proton gradient across the membrane which is generated by electron transport complexes of the
respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic
core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk.
During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk
subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central
stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on
the beta subunits. Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (By similarity)

Gene Wiki entry for ATP5A1 (ATP synthase, H+ transporting, mitochondrial F1 complex, alpha 1)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_010966.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP5A1 gene promoter:
         Egr-2   N-Myc   Spz1   AML1a   NF-kappaB   NF-kappaB1   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ATP5A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP5A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP5A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21   Ensembl cytogenetic band:  18q21.1   HGNC cytogenetic band: 18q21

ATP5A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP5A1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M043664:  view genomic region     (about GC identifiers)

Start:
43,664,110 bp from pter      End:
43,684,300 bp from pter
Size:
20,191 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ATPA_HUMAN, P25705 (See protein sequence)
Recommended Name: ATP synthase subunit alpha, mitochondrial precursor  
Size: 553 amino acids; 59751 Da
Subunit: F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1)
has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c.
Interacts with ATPAF2. Interacts with HRG; the interaction occurs on the surface of T-cells and alters the cell
morphology when associated with concanavalin (in vitro). Interacts with PLG (angiostatin peptide); the interaction
inhibits most of the angiogenic properties of angiostatin. Component of an ATP synthase complex composed of ATP5F1,
ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and
MP68 (By similarity). Interacts with BLOC1S1
Subcellular location: Mitochondrion inner membrane. Cell membrane; Peripheral membrane protein; Extracellular side.
Note=Colocalizes with HRG on the cell surface of T-cells
Secondary accessions: A8K092 Q53XX6 Q8IXV2 Q96FB4 Q96HW2 Q96IR6 Q9BTV8
Alternative splicing: 2 isoforms:  P25705-1   P25705-2   

Explore the universe of human proteins at neXtProt for ATP5A1: NX_P25705

Post-translational modifications:

  • The N-terminus is blocked1
  • Acetylated on lysine residues. BLOC1S1 is required for acetylation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P25705

  • 4/51 DME Specific Peptides for ATP5A1 (P25705) (see all 51)
     AMKQVAG  VPVGEEL  GQKRSTV  SAYIPTN 

    ATP5A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001001935.1  NP_001001937.1  NP_001244263.1  NP_001244264.1  NP_004037.1  

    ENSEMBL proteins: 
     ENSP00000465477   ENSP00000466309   ENSP00000467037   ENSP00000466275   ENSP00000381736  
     ENSP00000468618   ENSP00000466975   ENSP00000465497   ENSP00000467968   ENSP00000468458  
     ENSP00000465259   ENSP00000465805   ENSP00000467830   ENSP00000467983   ENSP00000282050  
     ENSP00000440198  
    Reactome Protein details: P25705
    Human Recombinant Protein Products: 
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    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000275mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) ----
    GO:0005739mitochondrion NAS1830491
    GO:0005743mitochondrial inner membrane IDA19016746
    GO:0005753mitochondrial proton-transporting ATP synthase complex IDA12110673
    GO:0005759mitochondrial matrix TAS--


    ATP5A1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ATP5A1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR000793 ATPase_F1/V1/A1-cplx_a/bsu_C
     IPR004100 ATPase_a/bsu_N
     IPR023366 ATPase_F1/A1-cplx_a_su_N
     IPR020003 ATPase_a/bsu_AS
     IPR005294 ATPase_F1-cplx_asu

    Graphical View of Domain Structure for InterPro Entry P25705

    ProtoNet protein and cluster: P25705

    1 Blocks protein family: IPB000194 H+-transporting two-sector ATPase

    UniProtKB/Swiss-Prot: ATPA_HUMAN, P25705
    Similarity: Belongs to the ATPase alpha/beta chains family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ATPA_HUMAN, P25705
    Function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the
    presence of a proton gradient across the membrane which is generated by electron transport complexes of the
    respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic
    core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk.
    During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk
    subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central
    stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on
    the beta subunits. Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (By similarity)

         Genatlas biochemistry entry for ATP5A1:
    ATP synthase H+ transporting,mitochondrial membrane (F1 segment),alpha subunit isoform 1,oligomycin-resistant,cardiac
    muscle,complex V of oxidative phosphorylation (OXPHOS)

    Enzyme Numbers (IUBMB): EC 3.6.3.142 EC 3.6.32

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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005524ATP binding ISS--
    GO:0016887contributes to ATPase activity IDA12110673
    GO:0022857transmembrane transporter activity IC12110673
    GO:0042288MHC class I protein binding IDA17643490


    ATP5A1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ATP5A1:
     Decreased viability after Chla 

    Animal Models:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Atp5a1):
     growth/size  homeostasis/metabolism  mortality/aging  tumorigenesis 

    ATP5A1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.1.00
    Parkinson's disease0.61
    Electron Transport Chain0.76
    Oxidative phosphorylation0.52
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Alzheimer's disease0.43
    Oxidative phosphorylation0.63
    Huntington's disease0.40
    2Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    3Mitochondrial Protein Import
    Mitochondrial Protein Import1.00
    4Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics
    Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics1.00
    5Formation of ATP by chemiosmotic coupling
    Formation of ATP by chemiosmotic coupling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for ATP5A1 
        Oxidative phosphorylation
    Electron Transport Chain

    5/6        Reactome Pathways for ATP5A1 (see all 6)
        Formation of ATP by chemiosmotic coupling
    Metabolism
    Mitochondrial Protein Import
    Metabolism of proteins
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

    1 PharmGKB Pathway for ATP5A1
        Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics

    5         Kegg Pathways  (Kegg details for ATP5A1):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    ATP5A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP5A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/568 Interacting proteins for ATP5A1 (P257051, 2, 3 ENSP000002820504) via UniProtKB, MINT, STRING, and/or I2D (see all 568)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5BP065762, 3, ENSP000002620304MINT-8079030 MINT-7900157 MINT-4054731 I2D: score=5 STRING: ENSP00000262030
    ACTBP607092, 3, ENSP000003499604MINT-7899812 MINT-7900157 MINT-4054731 I2D: score=2 STRING: ENSP00000349960
    YWHAGP619812, 3, ENSP000003063304MINT-50872 MINT-7899812 I2D: score=3 STRING: ENSP00000306330
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    ATP5C1P365422, 3, ENSP000003491424MINT-8079030 I2D: score=5 STRING: ENSP00000349142
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001937negative regulation of endothelial cell proliferation IMP10077593
    GO:0006172ADP biosynthetic process ----
    GO:0006200ATP catabolic process IDA12110673
    GO:0006629lipid metabolic process ISS--
    GO:0006754ATP biosynthetic process NAS1830491


    ATP5A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ATP5A1

    4 HMDB Compounds for ATP5A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    5 DrugBank Compounds for ATP5A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-ACETYL-2-CARBOXYPIPERIDINE-- --target--10592235
    AUROVERTIN B-- --target--10592235
    N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE-- --target--10592235
    PICEATANNOL-- --target--10592235
    Quercetin-- 117-39-5target--10592235

    Search CenterWatch for drugs/clinical trials and news about ATP5A1 / ATPA 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATP5A1 gene (5 alternative transcripts): 
    NM_001001935.2  NM_001001937.1  NM_001257334.1  NM_001257335.1  NM_004046.5  

    Unigene Cluster for ATP5A1:

    ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
    Hs.298280  [show with all ESTs]
    Unigene Representative Sequence: CR627212
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000586523 ENST00000590326 ENST00000593152 ENST00000590156 ENST00000590665
    ENST00000586592 ENST00000398752(uc002lbr.1 uc002lbs.1 uc010xct.1)
    ENST00000587902 ENST00000592364 ENST00000589252 ENST00000589869 ENST00000589611
    ENST00000590566 ENST00000590406 ENST00000591125 ENST00000590324 ENST00000590448
    ENST00000591981

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    Additional cDNA sequence: 

    AK092735.1 AK098765.1 AK129739.1 AK129804.1 AK129900.1 AK289457.1 AK294804.1 AK302272.1 
    AK310051.1 BC003119.1 BC007299.1 BC008028.2 BC011384.1 BC016046.1 BC019310.1 BC028335.1 
    BC039135.1 BC042694.1 BC064562.1 BC067385.1 BT007209.1 CR627212.1 D14710.1 X59066.1 
    X65460.1 

    24/143 DOTS entries (see all 143):

    DT.100745399  DT.100745431  DT.91964296  DT.91966596  DT.97866317  DT.95273320  DT.99926662  DT.92474938 
    DT.95273395  DT.100874827  DT.100745373  DT.100868936  DT.121095059  DT.121095061  DT.95273240  DT.92474847 
    DT.91737420  DT.92474893  DT.100745328  DT.100061196  DT.121095158  DT.101955867  DT.100745341  DT.95273150 

    24/4540 AceView cDNA sequences (see all 4540):

    AU143461 BE252134 AA810661 BM479758 BE784078 BX445182 BM471620 BU192448 
    BU192948 AU142726 AU142734 BM452446 AU143501 AU142575 AL560093 BM558872 
    BM799459 AU142669 BU167596 BQ226674 AL541039 AU143308 BQ895995 BU161924 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ATP5A1 (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b
    SP1:                    -           -     -     -                 -     -                                               -                       -               
    SP2:                    -                 -     -                 -     -                                               -                       -               
    SP3:                                -     -     -                 -     -                                                                                       
    SP4:              -     -           -     -                                                                                                                     
    SP5:              -     -           -     -     -                                                                                                               


    ECgene alternative splicing isoforms for ATP5A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP5A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAAATAAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ATP5A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Endoderm-like cells (Generation of hepato...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ATP5A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP5A1

    SOURCE GeneReport for Unigene cluster: Hs.298280

    UniProtKB/Swiss-Prot: ATPA_HUMAN, P25705
    Tissue specificity: Fetal lung, heart, liver, gut and kidney. Expressed at higher levels in the fetal brain, retina and
    spinal cord

        SABiosciences Expression via Pathway-Focused PCR Arrays including ATP5A1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ATP5A1 gene from 10/41 species (see all 41)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ATP5A11 ATP synthase, H+ transporting, mitochondrial F1 complex, more 82.46(n)
    91.86(a)
      374159  NM_204286.1  NP_989617.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP5A16
    --
    94(a)
    1 ↔ 1
    1(35083973-35094192)
    African clawed frog
    (Xenopus laevis)
    Amphibia atp5a1-prov2 ATP synthase, H+ transporting, mitochondrial F1 complex, more 77.9(n)    BC054959.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp5a11 ATP synthase, H+ transporting, mitochondrial F1 complex, more 77.8(n)
    91.47(a)
      553755  NM_001077355.1  NP_001070823.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta blw1 , 3 proton transport hydrogen-transporting
    two-sector more3
    bellwether1
    81(a)3
    72.45(n)1
    82.12(a)1
      59B23
    376171  NM_166554.21  NP_726243.11 
    worm
    (Caenorhabditis elegans)
    Secernentea H28O16.11 , 3 ATP synthase alpha and beta subunits, ATP
    synthase more3
    Protein H28O16.11
    84(a)3
    72.62(n)1
    84.13(a)1
      I(12660443-12662407)3
    1731341  NM_001026355.21  NP_001021526.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATP1(YBL099W)4
    ATP11
    Alpha subunit of the F1 sector of mitochondrial F1F more4
    Atp1p1
    63.58(n)1
    70.74(a)1
      2(37053-38690)4
    8521771, 4  NP_009453.21  NP_009453.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons atp11 ATPase subunit 1 63.35(n)
    69.92(a)
      3890462  atp1_26557005  NP_085571.2 
    rice
    (Oryza sativa)
    Liliopsida Os.252642 Transcribed sequence with weak similarity to protein more 78.29(n)    CA759670.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria atpA6
    F1 sector of membrane-bound ATP synthase, alpha su...
    56(a)
    1 ↔ 1
    Chromosome(3916339-3917880)


    ENSEMBL Gene Tree for ATP5A1 (if available)
    TreeFam Gene Tree for ATP5A1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP5A1 gene

    ATP5A1 for paralogs           About GeneDecksing


    5/9 Pseudogenes.org Pseudogenes for ATP5A1 (see all 9)
    PGOHUM00000247825 PGOHUM00000259084 PGOHUM00000236047 PGOHUM00000236069 PGOHUM00000236480


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/516 NCBI SNPs in ATP5A1 are shown (see all 516    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1876196601,2
    --43663611(+) TATATC/TCAGTT 5 -- ds50010--------
    rs28523621,2
    C,F,A,H,--43663673(-) CCACCG/ACACCC 5 -- ds50014Minor allele frequency- A:0.10NA 126
    rs72417371,2
    C,--43663674(+) ggtgcA/Ggtggc 5 -- ds50010--------
    rs1919589871,2
    --43663701(+) AGCACC/TGTGGT 5 -- ds50010--------
    rs1835397871,2
    --43663742(+) GTCAGA/GAGTTC 5 -- ds50010--------
    rs1415962511,2
    --43663807(+) ACTAGA/CCAGGC 5 -- ds50010--------
    rs607008531,2
    C,--43663813(+) CAGGCG/ATGGTG 5 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1400331021,2
    --43663817(+) CGTGGA/TGGTGG 5 -- ds50010--------
    rs584479871,2
    C--43663962(+) AAAAAA/CAAAAA 5 -- ds50013Minor allele frequency- C:0.00NA WA 6
    rs2022101841,2
    --43663962(+) AAAAA-/CAAAAA 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for ATP5A1 (43664110 - 43684300 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATP5A1: --

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ATP5A1 for disorders           About GeneDecksing

    OMIM gene information: 164360    OMIM disorders: --

    20 diseases for ATP5A1:    About MalaCards
    complex v    histoplasmosis    down syndrome    endocarditis
    huntington's disease    hepatitis b    parkinson's disease    alzheimer's disease
    colon cancer    retinoblastoma    colorectal cancer    hepatitis
    pneumonia    schizophrenia    tuberculosis    pancreatitis
    malaria    prostatitis    mycobacterium tuberculosis    prostate cancer

    Human Genome Epidemiology (HuGE) Navigator: ATP5A1 (3 documents)

    Export disorders for ATP5A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATP5A1 gene, integrated from 9 sources (see all 87):
    (articles sorted by number of sources associating them with ATP5A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nucleotide sequence of a cDNA for the alpha subunit of human mitochondrial ATP synthase. (PubMed id 1830491)1, 2, 3 Kataoka H. and Biswas C. (1991)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. (PubMed id 11410595)1, 2 Wang Z.-G.... Ackerman S.H. (2001)
    5. Angiostatin binds ATP synthase on the surface of human endothelial cells. (PubMed id 10077593)1, 2 Moser T.L....Pizzo S.V. (1999)
    6. The major protein expression profile and two-dimensional protein database of human heart. (PubMed id 7498159)1, 2 Kovalyov L.I.... Musalyamov A.K. (1995)
    7. Gene structure and cell type-specific expression of the human ATP synthase alpha subunit. (PubMed id 8086450)1, 2 Akiyama S.... Kagawa Y. (1994)
    8. Amplification of the gene encoding the alpha-subunit of the mitochondrial ATP synthase complex in a human retinoblastoma cell line. (PubMed id 8428659)1, 2 Godbout R.... Day R.S. III (1993)
    9. Comparative genomic hybridization analysis of Y79 and FISH mapping indicate the amplified human mitochondrial ATP synthase alpha-subunit gene (ATP5A) maps to chromosome 18q12-->q21. (PubMed id 9284928)1, 9 Godbout R....Squire J.A. (1997)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 498 HGNC: 823 AceView: ATP5A1 Ensembl:ENSG00000152234 euGenes: HUgn498
    ECgene: ATP5A1 Kegg: 498 H-InvDB: ATP5A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP5A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP5A1 gene:
    Search GeneIP for patents involving ATP5A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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